South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South

Summary

2,000 infants with signs suggestive of a genetic disorder being treated at a neonatal intensive care unit (NICU) in which African-American and rural populations are highly represented will be enrolled. Whole genome sequencing (WGS) will be used to identify pathogenic variation in DNA from these infants. Stakeholders, including parents, clinicians, and community leaders, will be engaged to develop culturally adapted educational materials and to equip non-genetics providers to return WGS results. Parents will be provided with these materials through a web portal, the Genome Gateway, and will be placed into one of two arms of a randomized trial to compare the effectiveness technology-assisted WGS result delivery by non-genetics providers relative to result delivery from genetic counselors.

Conditions

• Whole Genome Sequencing

Interventions

BEHAVIORAL

Genetic Counselor

Standard of Care

BEHAVIORAL

Trained Healthcare Provider

Neonatologists and Neonatology Nurse Practitioners that receive training to deliver whole genome sequencing results

Sponsors & Collaborators

• University of Mississippi Medical Center

  collaborator OTHER

• HudsonAlpha Institute for Biotechnology

  collaborator OTHER

• Woman's Hospital, Louisiana

  collaborator OTHER

• Children's Hospital New Orleans, LA

  collaborator OTHER

• Norton Children's Hospital

  collaborator OTHER

• University of Louisville

  collaborator OTHER

• University of Alabama at Birmingham

  lead OTHER

Principal Investigators

• Maria Danila, MD, MSc,MSPH · University of Alabama at Birmingham

Study Design

Allocation

RANDOMIZED

Purpose

HEALTH_SERVICES_RESEARCH

Masking

NONE

Model

PARALLEL

Eligibility

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2019-04-15

Primary Completion

2022-05-01

Completion

2023-12-31

Countries

• United States

Study Locations